Canonical Allele Identifier: CA386636919

Gene: MMAB

Linked Data

• dbSNP Id: rs767774574
• gnomAD v4: 12-109561070-C-A
• MyVariant Identifiers: chr12:g.109998875C>A (hg19) ; chr12:g.109561070C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109561070C>A , CM000674.2:g.109561070C>A	GRCh38
NC_000012.11:g.109998875C>A , CM000674.1:g.109998875C>A	GRCh37
NC_000012.10:g.108483258C>A	NCBI36
NG_007096.1:g.17428G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000545712.7:c.554G>T MANE Select	ENSP00000445920.1:p.Cys185Phe
ENST00000537496.5:c.*119G>T	ENSP00000444793.1:n.*119G>T
ENST00000540016.5:c.398G>T	ENSP00000474582.1:p.Cys133Phe
ENST00000541763.6:c.779G>T	ENSP00000474981.1:n.779G>T
ENST00000544051.5:c.*435G>T	ENSP00000438079.1:n.*435G>T
ENST00000545712.6:c.554G>T	ENSP00000445920.1:p.Cys185Phe
NM_052845.3:c.554G>T	NP_443077.1:p.Cys185Phe
NR_038118.1:n.714G>T
XM_011538266.1:c.399G>T	XP_011536568.1:p.Leu133=
XM_011538267.1:c.399G>T	XP_011536569.1:p.Leu133=
XM_011538268.1:c.281G>T	XP_011536570.1:p.Cys94Phe
XM_011538269.1:c.278G>T	XP_011536571.1:p.Cys93Phe
XM_011538267.3:c.399G>T	XP_011536569.1:p.Leu133=
XM_011538268.2:c.281G>T	XP_011536570.1:p.Cys94Phe
XM_011538269.2:c.278G>T	XP_011536571.1:p.Cys93Phe
XM_024448961.1:c.554G>T	XP_024304729.1:p.Cys185Phe
NM_052845.4:c.554G>T MANE Select	NP_443077.1:p.Cys185Phe
NR_038118.2:n.665G>T